Canonical Allele Identifier: CA2649661689

Gene: ASPM

Linked Data

• gnomAD v4: 1-197100837-CAAGCAAGGCCAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197100842_197100853del , CM000663.2:g.197100842_197100853del	GRCh38
NC_000001.10:g.197069972_197069983del , CM000663.1:g.197069972_197069983del	GRCh37
NC_000001.9:g.195336595_195336606del	NCBI36
NG_015867.1:g.50846_50857del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-4685_2108-4674del
ENST00000367409.9:c.8402_8413del MANE Select	ENSP00000356379.4:p.Ser2801_Ala2804del
ENST00000680265.1:c.8402_8413del	ENSP00000505384.1:p.Ser2801_Ala2804del
ENST00000680710.1:c.8402_8413del	ENSP00000506676.1:p.Ser2801_Ala2804del
ENST00000294732.11:c.4066-4685_4066-4674del	ENSP00000294732.7:n.4066-4685_4066-4674del
ENST00000367408.5:c.1816-4685_1816-4674del	ENSP00000356378.1:n.1816-4685_1816-4674del
ENST00000367409.8:c.8402_8413del	ENSP00000356379.4:p.Ser2801_Ala2804del
ENST00000612785.1:c.2360_2371del	ENSP00000479244.1:p.Ser787_Ala790del
NM_001206846.1:c.4066-4685_4066-4674del	NP_001193775.1:n.4066-4685_4066-4674del
NM_018136.4:c.8402_8413del	NP_060606.3:p.Ser2801_Ala2804del
NM_018136.5:c.8402_8413del MANE Select	NP_060606.3:p.Ser2801_Ala2804del
NM_001206846.2:c.4066-4685_4066-4674del	NP_001193775.1:n.4066-4685_4066-4674del